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Features include always present findings: Bone spicule pigmentation of the retina, Rod-cone dystrophy, and Retinal thinning on OCT; and very common findings: Constriction of peripheral visual field and Reduced visual acuity.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 1 | Bone spicule pigmentation of the retina |
SAG function has not been fully characterized.
Retinitis pigmentosa 96 is associated with mutations in the SAG gene on chromosome 2.
Genetic testing for SAG is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for retinitis pigmentosa 96 has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 2 very common features.
No clinical trials have been registered for retinitis pigmentosa 96.
24 publications have been identified in PubMed for retinitis pigmentosa 96. Research spans Review / Meta-Analysis (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 6 | 25% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:04 PM UTC
Online Mendelian Inheritance in Man
Eyes
1 |
Retinal thinning on OCT |
6 |
25% |
Disease patterns and progression | 6 | 25% |
Testing and diagnosis research | 2 | 8% |
Patient case studies | 2 | 8% |
Clinical study results | 1 | 4% |
New treatment approaches | 1 | 4% |
Shah M (2026). [PMID: 40690992](https://pubmed.ncbi.nlm.nih.gov/40690992/). *Clin Exp Optom*. [Clinical Trial Publication]
Du X (2026). [PMID: 40889739](https://pubmed.ncbi.nlm.nih.gov/40889739/). *J Genet Genomics*. [Epidemiology / Natural History]
Wang J (2026). [PMID: 41074779](https://pubmed.ncbi.nlm.nih.gov/41074779/). *Clin Genet*. [Basic Science / Preclinical]
Chotikavanich S (2026). [PMID: 41844146](https://pubmed.ncbi.nlm.nih.gov/41844146/). *Clin Exp Optom*. [Epidemiology / Natural History]
Daich Varela M (2026). [PMID: 41660487](https://pubmed.ncbi.nlm.nih.gov/41660487/). *Ophthalmol Sci*. [Diagnostic / Biomarker]
Ucgun NI (2025). [PMID: 38504575](https://pubmed.ncbi.nlm.nih.gov/38504575/). *Curr Stem Cell Res Ther*. [Gene Therapy / Novel Therapeutics]
Ashrafi S (2025). [PMID: 40719545](https://pubmed.ncbi.nlm.nih.gov/40719545/). *Transl Vis Sci Technol*. [Review / Meta-Analysis]
Marta A (2025). [PMID: 39939324](https://pubmed.ncbi.nlm.nih.gov/39939324/). *NPJ Genom Med*. [Epidemiology / Natural History]
Foa N (2025). [PMID: 40168954](https://pubmed.ncbi.nlm.nih.gov/40168954/). *Ophthalmologica*. [Case Report / Case Series]
Nowomiejska K (2025). [PMID: 40095571](https://pubmed.ncbi.nlm.nih.gov/40095571/). *J Clin Med*. [Basic Science / Preclinical]